Jm. Bonifas et al., PARENTAL ORIGIN OF CHROMOSOME 9Q22.3-Q31 LOST IN BASAL-CELL CARCINOMAS FROM BASAL-CELL NEVUS SYNDROME PATIENTS, Human molecular genetics, 3(3), 1994, pp. 447-448
The basal cell nevus syndrome is an autosomal dominant disease, one of
the most prominent phenotypic features of which is a large number of
cutaneous basal cell carcinomas. The gene whose mutation underlies thi
s disease has been mapped to chromosome 9q22.3 - q31, and basal cell c
arcinomas frequently have allelic losses including this site. We repor
t here that the chromosome 9q22.3 - q31 lost in 24 basal cell carcinom
as from basal cell nevus syndrome patients was the one predicted by li
nkage to contain the wild-type gene. Hence these data are compatible w
ith the expectation that the product of the basal cell nevus syndrome
gene acts as a tumor suppresser.